← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 13-49549573-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=49549573&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 49549573,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018191.4",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "NM_018191.4",
"protein_id": "NP_060661.3",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378302.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018191.4"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "ENST00000378302.7",
"protein_id": "ENSP00000367552.2",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018191.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378302.7"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "NM_001352500.2",
"protein_id": "NP_001339429.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352500.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "NM_001352501.2",
"protein_id": "NP_001339430.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352501.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "NM_001352502.2",
"protein_id": "NP_001339431.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352502.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "NM_001352503.2",
"protein_id": "NP_001339432.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352503.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "ENST00000258646.3",
"protein_id": "ENSP00000258646.3",
"transcript_support_level": 2,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258646.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "ENST00000860932.1",
"protein_id": "ENSP00000530991.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860932.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "ENST00000860933.1",
"protein_id": "ENSP00000530992.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860933.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "ENST00000860934.1",
"protein_id": "ENSP00000530993.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860934.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "ENST00000860935.1",
"protein_id": "ENSP00000530994.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860935.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "ENST00000919057.1",
"protein_id": "ENSP00000589116.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919057.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "ENST00000949631.1",
"protein_id": "ENSP00000619690.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949631.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "ENST00000949633.1",
"protein_id": "ENSP00000619692.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949633.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "ENST00000949636.1",
"protein_id": "ENSP00000619695.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949636.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "ENST00000949637.1",
"protein_id": "ENSP00000619696.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949637.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "ENST00000919059.1",
"protein_id": "ENSP00000589118.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 528,
"cds_start": 930,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919059.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "ENST00000949632.1",
"protein_id": "ENSP00000619691.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 524,
"cds_start": 930,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949632.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.822G>T",
"hgvs_p": "p.Trp274Cys",
"transcript": "ENST00000919058.1",
"protein_id": "ENSP00000589117.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 495,
"cds_start": 822,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919058.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "NM_001352504.2",
"protein_id": "NP_001339433.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 487,
"cds_start": 930,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352504.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.687G>T",
"hgvs_p": "p.Trp229Cys",
"transcript": "ENST00000949634.1",
"protein_id": "ENSP00000619693.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 450,
"cds_start": 687,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949634.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.687G>T",
"hgvs_p": "p.Trp229Cys",
"transcript": "ENST00000949635.1",
"protein_id": "ENSP00000619694.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 450,
"cds_start": 687,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949635.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "NM_001352505.2",
"protein_id": "NP_001339434.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 355,
"cds_start": 930,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352505.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.351G>T",
"hgvs_p": "p.Trp117Cys",
"transcript": "NM_001352506.2",
"protein_id": "NP_001339435.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 338,
"cds_start": 351,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352506.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys",
"transcript": "XM_011535134.2",
"protein_id": "XP_011533436.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 531,
"cds_start": 930,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535134.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.543G>T",
"hgvs_p": "p.Trp181Cys",
"transcript": "XM_011535135.3",
"protein_id": "XP_011533437.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 402,
"cds_start": 543,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535135.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.*117G>T",
"hgvs_p": null,
"transcript": "XM_011535136.3",
"protein_id": "XP_011533438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": null,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535136.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "n.1324G>T",
"hgvs_p": null,
"transcript": "NR_148015.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148015.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "n.1280G>T",
"hgvs_p": null,
"transcript": "NR_148016.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148016.2"
}
],
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"dbsnp": "rs772592456",
"frequency_reference_population": 0.000004104366,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410437,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9362889528274536,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.903,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9988,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018191.4",
"gene_symbol": "RCBTB1",
"hgnc_id": 18243,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.930G>T",
"hgvs_p": "p.Trp310Cys"
}
],
"clinvar_disease": "RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES,Retinitis pigmentosa,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Retinitis pigmentosa|RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}